A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6143656



Internal ID9542383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94808550..94809854hg38UCSC Ensembl
chr2:95474295..95475599hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381305
hg191305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2662784
Supporting Variants
SamplesNA19074
Known GenesANKRD20A8P
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6143656
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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