A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673708



Internal ID9939813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2345485..2345664hg38UCSC Ensembl
chr16:2395486..2395665hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5927761, essv6457534, essv6450416, essv6095037, essv6574767, essv6100424, essv6550961, essv6545726, essv6150565, essv5758076, essv5970396, essv5908315, essv5572539, essv6397245, essv5565274, essv6308643, essv6594984
SamplesNA19399, NA19359, NA19355, HG01069, HG01080, NA19383, NA19372, NA19385, HG01187, NA19391, HG01101, NA19395, NA19401, NA19311, NA19360, NA19398, NA19093
Known GenesABCA17P
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673708
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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