A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734066



Internal ID9968391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:17800858..17801207hg38UCSC Ensembl
Outerchr7:17840481..17840830hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6694423, essv6676785
SamplesSSM032, SSM037
Known GenesSNX13
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)esv2734066
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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