A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719652



Internal ID10303288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10487634..10488186hg38UCSC Ensembl
Outerchr2:10627760..10628312hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38553
hg19553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847445, essv6669395, essv6825274, essv6886190, essv6704095, essv6813411, essv6972834
SamplesSSM029, SSM096, SSM031, SSM086, SSM040, SSM080, SSM077
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)esv2719652
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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