A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656635



Internal ID9576054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46204086..47091135hg38UCSC Ensembl
chr17:44281452..45168501hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38887050
hg19887050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6246712, essv6344121, essv5914164, essv6067971, essv5848219, essv5827556, essv6411630
SamplesNA18561, NA18964, NA18874, HG00262, NA18985, NA20799, HG01097
Known GenesARL17A, ARL17B, GOSR2, KANSL1, LOC644172, LRRC37A, LRRC37A2, MIR5089, NSF, NSFP1, RPRML, WNT3, WNT9B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656635
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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