A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722014



Internal ID10305650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241668806..241669312hg38UCSC Ensembl
Outerchr2:242608221..242608727hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38507
hg19507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6789681, essv6955619, essv6777434, essv6854010, essv6926111, essv6773911, essv6714731, essv6881165, essv6693337, essv6951075, essv6766899, essv6785548, essv6847825, essv6833040
SamplesSSM064, SSM087, SSM069, SSM026, SSM019, SSM067, SSM086, SSM066, SSM082, SSM037, SSM070, SSM025, SSM043, SSM012
Known GenesATG4B
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)esv2722014
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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