A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642031



Internal ID7028801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26975600..26977099hg38UCSC Ensembl
Innerchr18:26975600..26977099hg38UCSC Ensembl
Outerchr18:26975380..26977352hg38UCSC Ensembl
chr18:24555564..24557063hg19UCSC Ensembl
Innerchr18:24555564..24557063hg19UCSC Ensembl
Outerchr18:24555344..24557316hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15824579, essv15824557, essv15824586, essv15824595, essv15824592, essv15824589, essv15824576, essv15824580, essv15824567, essv15824575, essv15824561, essv15824571, essv15824565, essv15824597, essv15824588, essv15824573, essv15824578, essv15824568, essv15824562, essv15824587, essv15824558, essv15824577, essv15824596, essv15824594, essv15824570, essv15824559, essv15824566, essv15824574, essv15824563, essv15824560, essv15824582, essv15824584, essv15824569, essv15824581, essv15824593, essv15824598, essv15824590, essv15824556, essv15824583, essv15824572, essv15824585, essv15824591, essv15824564
SamplesHG00442, HG02072, HG01965, HG00699, HG01802, HG00654, HG00663, NA18563, NA19678, NA18558, HG00610, HG01982, HG01893, NA18749, HG02395, HG02138, NA18954, HG02402, NA18605, HG02075, HG02345, HG02057, HG00653, HG02084, HG00556, HG00583, HG01414, HG00651, HG00690, NA18536, NA18593, NA18546, HG02064, HG01260, NA18643, NA19783, HG02116, NA19770, NA19780, NA18989, NA18623, HG01923, HG01926
Known GenesCHST9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642031
Frequency
Sample Size2504
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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