A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618082



Internal ID7004965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94626120..94627598hg38UCSC Ensembl
Innerchr8:94626122..94627597hg38UCSC Ensembl
Outerchr8:94626119..94627600hg38UCSC Ensembl
chr8:95638348..95639826hg19UCSC Ensembl
Innerchr8:95638350..95639825hg19UCSC Ensembl
Outerchr8:95638347..95639828hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg381479
hg191479
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13260659, essv13260641, essv13260669, essv13260678, essv13260675, essv13260651, essv13260666, essv13260642, essv13260647, essv13260667, essv13260693, essv13260638, essv13260654, essv13260648, essv13260687, essv13260682, essv13260665, essv13260653, essv13260662, essv13260649, essv13260655, essv13260652, essv13260670, essv13260672, essv13260673, essv13260684, essv13260677, essv13260690, essv13260650, essv13260671, essv13260668, essv13260644, essv13260656, essv13260686, essv13260680, essv13260660, essv13260692, essv13260679, essv13260663, essv13260681, essv13260646, essv13260661, essv13260643, essv13260658, essv13260664, essv13260676, essv13260657, essv13260688, essv13260640, essv13260639, essv13260683, essv13260645, essv13260674, essv13260691, essv13260685, essv13260689
SamplesHG03096, NA20339, HG03559, HG02583, NA18861, HG02419, HG02836, NA18486, NA18878, HG03074, HG02621, NA19201, HG03091, HG02146, HG03370, HG02860, HG02143, HG03189, NA19917, HG01164, HG02943, HG02570, HG02439, NA19247, HG02322, HG02497, HG02537, HG01102, HG03563, HG03472, HG02283, NA19257, HG01890, HG02332, HG03109, HG01990, HG01075, HG01896, HG03028, HG03539, HG02010, NA19454, NA18865, HG02982, HG01260, HG02580, HG01108, HG03557, NA19323, NA19248, NA19468, HG03060, HG02768, NA19116, HG03162, NA19316
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618082
Frequency
Sample Size2504
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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