A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719467



Internal ID10303103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2936356..2937256hg38UCSC Ensembl
Outerchr2:2940128..2941028hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv580e201
Supporting Variantsessv6836439, essv6813397, essv6699885, essv6942087, essv6821436, essv6710836, essv6714505, essv6929349, essv6937940, essv6797736, essv6825248, essv6968227, essv6675452, essv6961954, essv6846054, essv6781141, essv6864266, essv6868918, essv6840233, essv6871913, essv6745129, essv6906349, essv6793569
SamplesSSM083, SSM071, SSM027, SSM011, SSM079, SSM039, SSM042, SSM023, SSM028, SSM084, SSM090, SSM089, SSM032, SSM014, SSM068, SSM072, SSM020, SSM080, SSM077, SSM022, SSM091, SSM055, SSM043
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)esv2719467
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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