A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735224



Internal ID9969554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138718198..138718349hg38UCSC Ensembl
Outerchr7:138402943..138403094hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6727473, essv6964309, essv6975432
SamplesSSM027, SSM046, SSM029
Known GenesATP6V0A4
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)esv2735224
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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