A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734460



Internal ID9968787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56246297..56246693hg38UCSC Ensembl
Outerchr7:56313990..56314386hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38397
hg19397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6715781, essv6893758, essv6684227, essv6790775, essv6964160, essv6708653, essv6690708, essv6746119
SamplesSSM036, SSM027, SSM041, SSM055, SSM070, SSM034, SSM043, SSM098
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)esv2734460
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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