A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6697337



Internal ID9765133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237647520..237647928hg38UCSC Ensembl
Outerchr2:238556163..238556571hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38409
hg19409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721737
Supporting Variants
SamplesSSM038
Known GenesLRRFIP1
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)essv6697337
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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