A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594002



Internal ID6634279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202732889..202746375hg38UCSC Ensembl
Innerchr2:202732889..202746375hg38UCSC Ensembl
Outerchr2:202732389..202746875hg38UCSC Ensembl
chr2:203597612..203611098hg19UCSC Ensembl
Innerchr2:203597612..203611098hg19UCSC Ensembl
Outerchr2:203597112..203611598hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3813487
hg1913487
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10825033
SamplesHG03234
Known GenesFAM117B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594002
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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