A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721761



Internal ID10305397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238296082..238296169hg38UCSC Ensembl
Outerchr2:239204723..239204810hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv638e201
Supporting Variantsessv6669754, essv6859779, essv6817164, essv6864561
SamplesSSM088, SSM089, SSM031, SSM078
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)esv2721761
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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