A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720998



Internal ID10304634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:155528531..155529151hg38UCSC Ensembl
Outerchr2:156385043..156385663hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38621
hg19621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6700053, essv6906523, essv6722386, essv6769933, essv6875025, essv6739173, essv6773828, essv6693225, essv6797889, essv6793720, essv6714642, essv6847664, essv6910467, essv6929519, essv6752187, essv6902910, essv6968393, essv6825416, essv6973102
SamplesSSM008, SSM071, SSM045, SSM065, SSM039, SSM013, SSM028, SSM092, SSM029, SSM014, SSM086, SSM066, SSM072, SSM020, SSM015, SSM080, SSM037, SSM043, SSM052
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2720998
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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