A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734892



Internal ID9969222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100729938..100743180hg38UCSC Ensembl
Outerchr7:100327561..100340803hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3813243
hg1913243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6762818, essv6919184, essv6902430, essv6737202, essv6875978
SamplesSSM050, SSM002, SSM092, SSM062, SSM017
Known GenesZAN
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)esv2734892
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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