A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735331



Internal ID9969661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:149557623..149599011hg38UCSC Ensembl
Outerchr7:149254714..149296102hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3841389
hg1941389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6891166, essv6828776, essv6802860, essv6687589, essv6731246, essv6935135, essv6764220, essv6808727
SamplesSSM008, SSM075, SSM073, SSM021, SSM047, SSM035, SSM010, SSM012
Known GenesZNF767
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)esv2735331
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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