A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593440



Internal ID6980764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176293242..176295831hg38UCSC Ensembl
Innerchr2:176293242..176295831hg38UCSC Ensembl
Outerchr2:176293027..176296039hg38UCSC Ensembl
chr2:177157970..177160559hg19UCSC Ensembl
Innerchr2:177157970..177160559hg19UCSC Ensembl
Outerchr2:177157755..177160767hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382590
hg192590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10766558
SamplesHG01133
Known GenesMTX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593440
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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