A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5297279



Internal ID8042328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95944739..95949620hg38UCSC Ensembl
Innerchr12:96338517..96343398hg19UCSC Ensembl
Innerchr12:94862648..94867529hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg384882
hg194882
hg184882
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2572405
Supporting Variants
SamplesNA18507
Known GenesAMDHD1
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)essv5297279
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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