A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666104



Internal ID9932209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7691461..7700108hg38UCSC Ensembl
Outerchr12:7691424..7700158hg38UCSC Ensembl
Innerchr12:7844057..7852704hg19UCSC Ensembl
Outerchr12:7844020..7852754hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg388735
hg198735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6571442
SamplesNA19457
Known GenesGDF3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666104
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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