A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719650



Internal ID9953944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10331731..10332399hg38UCSC Ensembl
Outerchr2:10471857..10472525hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38669
hg19669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6836455, essv6880608, essv6750954, essv6853638, essv6714520, essv6781164, essv6840248, essv6773700, essv6669394, essv6785292, essv6726110, essv6689506, essv6972833, essv6818787
SamplesSSM036, SSM008, SSM083, SSM046, SSM087, SSM084, SSM069, SSM029, SSM094, SSM031, SSM066, SSM068, SSM010, SSM043
Known GenesHPCAL1
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)esv2719650
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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