A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721483



Internal ID10305119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219367786..219368452hg38UCSC Ensembl
Outerchr2:220232508..220233174hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38667
hg19667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6667127, essv6777370, essv6722243, essv6736336, essv6759390, essv6745280, essv6700117, essv6748123, essv6902954, essv6788343, essv6853938, essv6753866, essv6910512, essv6973205, essv6926079, essv6840416, essv6764468
SamplesSSM087, SSM039, SSM013, SSM009, SSM050, SSM058, SSM084, SSM061, SSM029, SSM019, SSM067, SSM007, SSM015, SSM055, SSM056, SSM030, SSM063
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)esv2721483
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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