A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5175163



Internal ID7920212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152402682..152415250hg38UCSC Ensembl
Innerchr7:152099767..152112335hg19UCSC Ensembl
Innerchr7:151730700..151743268hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3812569
hg1912569
hg1812569
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2511640
Supporting Variants
SamplesNA18507
Known GenesKMT2C
MethodSequencing
AnalysisCopy number variations are detected using the SOLiD Human CNV Tool. Regions with poor mappability are filtered out from consideration and a log ratio of coverage is used to determine areas of increased copy number. A Hidden Markov Model converts increased coverage into discrete copy number states.
PlatformNot specified
CommentsoriginalFile=Yoruban_cnv.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)essv5175163
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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