A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6933811



Internal ID9699088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237544560..237545156hg38UCSC Ensembl
Outerchr2:238453203..238453799hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38597
hg19597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721726, esv2721727
Supporting Variants
SamplesSSM021
Known GenesMLPH
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)essv6933811
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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