A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616770



Internal ID7003656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29613661..29615131hg38UCSC Ensembl
Innerchr8:29613662..29615131hg38UCSC Ensembl
Outerchr8:29613661..29615132hg38UCSC Ensembl
chr8:29471177..29472647hg19UCSC Ensembl
Innerchr8:29471178..29472647hg19UCSC Ensembl
Outerchr8:29471177..29472648hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381471
hg191471
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13153564, essv13153592, essv13153610, essv13153600, essv13153579, essv13153598, essv13153562, essv13153625, essv13153609, essv13153612, essv13153595, essv13153554, essv13153596, essv13153617, essv13153594, essv13153584, essv13153573, essv13153618, essv13153601, essv13153569, essv13153619, essv13153585, essv13153565, essv13153576, essv13153587, essv13153624, essv13153570, essv13153616, essv13153568, essv13153591, essv13153614, essv13153578, essv13153571, essv13153588, essv13153604, essv13153563, essv13153599, essv13153621, essv13153607, essv13153556, essv13153557, essv13153597, essv13153574, essv13153572, essv13153559, essv13153622, essv13153606, essv13153620, essv13153567, essv13153602, essv13153582, essv13153555, essv13153589, essv13153603, essv13153586, essv13153575, essv13153566, essv13153605, essv13153615, essv13153611, essv13153613, essv13153593, essv13153581, essv13153623, essv13153583, essv13153590, essv13153558, essv13153560, essv13153580, essv13153577, essv13153561, essv13153608
SamplesHG01985, NA20339, HG02496, NA19703, NA19397, NA19466, HG03052, NA19914, HG03111, HG02433, NA18881, HG03521, HG03298, HG03297, NA19374, HG03385, HG03135, HG03499, HG02325, HG02595, NA19916, NA19130, HG02981, HG02505, HG02281, HG02143, HG01398, NA18874, NA19172, HG02471, NA19159, HG04020, HG02545, HG03369, HG03169, HG04062, NA19175, HG02678, HG02953, NA18871, HG03124, HG03123, HG02429, NA19042, NA19436, NA19035, NA20801, HG03461, HG03437, HG03367, HG02308, HG03838, NA19331, NA19334, NA19376, NA18501, NA20348, HG03112, HG02974, NA19438, HG03279, HG02053, HG03716, HG02679, HG02013, NA19116, NA19030, HG01377, HG01886, HG02808, HG03196, HG01976
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616770
Frequency
Sample Size2504
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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