A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607857



Internal ID6648096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:594995..596593hg38UCSC Ensembl
Innerchr6:594995..596593hg38UCSC Ensembl
Outerchr6:594750..596868hg38UCSC Ensembl
chr6:594995..596593hg19UCSC Ensembl
Innerchr6:594995..596593hg19UCSC Ensembl
Outerchr6:594750..596868hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg381599
hg191599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12169593, essv12169587, essv12169597, essv12169572, essv12169573, essv12169576, essv12169581, essv12169580, essv12169596, essv12169590, essv12169585, essv12169577, essv12169582, essv12169588, essv12169583, essv12169574, essv12169579, essv12169595, essv12169591, essv12169578, essv12169589, essv12169594, essv12169586, essv12169575, essv12169584, essv12169592
SamplesNA20281, HG03086, HG03419, NA18517, HG02497, NA18505, NA19438, NA19043, HG03470, NA18508, HG02009, HG02557, NA19213, HG03085, NA19372, HG03514, NA19707, HG02052, HG03352, NA19235, HG02484, NA19431, HG02481, HG03123, HG03081, NA19160
Known GenesEXOC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607857
Frequency
Sample Size2504
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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