A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6106268



Internal ID9083671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:143756884..143759844hg38UCSC Ensembl
Outerchr2:143756847..143759894hg38UCSC Ensembl
Innerchr2:144514453..144517413hg19UCSC Ensembl
Outerchr2:144514416..144517463hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg383048
hg193048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670420
Supporting Variants
SamplesNA19077
Known GenesARHGAP15
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6106268
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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