A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602152



Internal ID6989186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:127831557..127832086hg38UCSC Ensembl
Innerchr4:127831557..127832086hg38UCSC Ensembl
Outerchr4:127831200..127832418hg38UCSC Ensembl
chr4:128752712..128753241hg19UCSC Ensembl
Innerchr4:128752712..128753241hg19UCSC Ensembl
Outerchr4:128752355..128753573hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38530
hg19530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11596554, essv11596560, essv11596600, essv11596565, essv11596549, essv11596564, essv11596594, essv11596581, essv11596544, essv11596556, essv11596598, essv11596574, essv11596561, essv11596580, essv11596542, essv11596569, essv11596583, essv11596576, essv11596550, essv11596563, essv11596570, essv11596571, essv11596592, essv11596579, essv11596541, essv11596551, essv11596555, essv11596552, essv11596595, essv11596559, essv11596584, essv11596567, essv11596589, essv11596557, essv11596540, essv11596548, essv11596537, essv11596577, essv11596588, essv11596536, essv11596591, essv11596562, essv11596586, essv11596590, essv11596535, essv11596572, essv11596597, essv11596587, essv11596539, essv11596553, essv11596545, essv11596558, essv11596599, essv11596534, essv11596596, essv11596568, essv11596575, essv11596538, essv11596593, essv11596566, essv11596546, essv11596543, essv11596578, essv11596573, essv11596585, essv11596547, essv11596582
SamplesHG01850, HG00542, HG02250, HG01860, HG02061, NA18603, HG02384, NA18633, NA18962, NA18550, HG02407, HG00610, HG00851, HG01840, HG02131, HG02395, HG02389, HG02187, HG01849, HG01046, NA18617, NA18986, HG02409, HG00464, NA18645, NA18951, HG01871, HG01595, HG02025, HG00653, HG02397, HG00657, HG02775, HG00533, HG00583, HG02165, HG01852, HG01796, HG00708, NA19000, HG00404, HG00479, HG02141, HG00613, HG02724, HG02081, HG00704, HG00864, HG01858, HG00611, NA18632, HG02049, HG02391, HG00623, NA18615, NA18610, HG01868, HG00421, NA18636, NA18983, HG01794, NA18989, HG01863, HG00759, HG02406, HG00437, HG00593
Known GenesHSPA4L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602152
Frequency
Sample Size2504
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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