A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675247



Internal ID9941352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16423371..16429977hg38UCSC Ensembl
Outerchr1:16423000..16430347hg38UCSC Ensembl
Innerchr1:16749866..16756472hg19UCSC Ensembl
Outerchr1:16749495..16756842hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg387348
hg197348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5934337, essv6408124, essv5861121, essv6234125, essv5923478, essv5844196, essv5998659
SamplesHG00626, HG00524, HG00663, HG00501, HG00448, HG00512, HG00629
Known GenesSPATA21
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675247
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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