A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733711



Internal ID10317347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1081397..1081987hg38UCSC Ensembl
Outerchr7:1121033..1121623hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38591
hg19591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6826592, essv6805586, essv6934934, essv6947989, essv6875880, essv6930263, essv6767681, essv6715718, essv6786597, essv6731055, essv6680568
SamplesSSM024, SSM064, SSM074, SSM092, SSM021, SSM047, SSM069, SSM003, SSM033, SSM080, SSM043
Known GenesC7orf50
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)esv2733711
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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