A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723577



Internal ID10307213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42848729..42849309hg38UCSC Ensembl
Outerchr21:44268839..44269419hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38581
hg19581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784891, essv6868658, essv6972209, essv6839877, essv6797354, essv6721910, essv6921632
SamplesSSM083, SSM071, SSM028, SSM089, SSM017, SSM044, SSM068
Known GenesWDR4
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)esv2723577
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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