A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672162



Internal ID9938267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112287837..112289560hg38UCSC Ensembl
chr2:113045414..113047137hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg381724
hg191724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5481846, essv6079220, essv5917422, essv6136976, essv5741994, essv5412999, essv6116968
SamplesNA19394, NA19377, NA19445, NA19403, NA19327, NA19390, NA19430
Known GenesZC3H6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672162
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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