A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722295



Internal ID10305931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210465722..210466646hg38UCSC Ensembl
Outerchr1:210639066..210639990hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38925
hg19925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733607, essv6853477, essv6859378, essv6766672, essv6972639, essv6720065, essv6968103, essv6954998, essv6669213, essv6773601
SamplesSSM064, SSM087, SSM088, SSM028, SSM029, SSM026, SSM031, SSM066, SSM007, SSM049
Known GenesHHAT
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)esv2722295
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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