A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592751



Internal ID6633034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143252865..143259475hg38UCSC Ensembl
Innerchr2:143252865..143259475hg38UCSC Ensembl
Outerchr2:143252365..143259975hg38UCSC Ensembl
chr2:144010434..144017044hg19UCSC Ensembl
Innerchr2:144010434..144017044hg19UCSC Ensembl
Outerchr2:144009934..144017544hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg386611
hg196611
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10694999, essv10694998
SamplesHG01148, HG01136
Known GenesARHGAP15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592751
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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