A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719424



Internal ID10303060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2696318..2696863hg38UCSC Ensembl
Outerchr2:2700090..2700635hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38546
hg19546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825241, essv6829232, essv6669360, essv6933579, essv6693054, essv6937937, essv6955157, essv6880603, essv6793561, essv6821433, essv6921993, essv6714502, essv6917693, essv6853611
SamplesSSM071, SSM079, SSM087, SSM021, SSM018, SSM026, SSM017, SSM094, SSM031, SSM081, SSM080, SSM037, SSM022, 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)esv2719424
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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