A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2577003



Internal ID8293875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152399521..152402682hg38UCSC Ensembl
Innerchr7:152096606..152099767hg19UCSC Ensembl
Innerchr7:151727539..151730700hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383162
hg193162
hg183162
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5181593
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)esv2577003
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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