A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6872090



Internal ID10268363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237213068..237213340hg38UCSC Ensembl
Outerchr2:238121711..238121983hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721719
Supporting Variants
SamplesSSM091
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)essv6872090
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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