A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734467



Internal ID9968794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56638936..56639612hg38UCSC Ensembl
Outerchr7:56706629..56707305hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38677
hg19677
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690711, essv6731126, essv6790777, essv6964161, essv6774816, essv6715784, essv6680635, essv6957457, essv6927045
SamplesSSM036, SSM027, SSM047, SSM026, SSM019, SSM033, SSM066, SSM070, SSM043
Known Genes
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)esv2734467
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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