A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6929463



Internal ID10040685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:100445283..100445630hg38UCSC Ensembl
Outerchr2:101061745..101062092hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720437
Supporting Variants
SamplesSSM020
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)essv6929463
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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