A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594533



Internal ID6981853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227330782..227332414hg38UCSC Ensembl
Innerchr2:227330832..227332364hg38UCSC Ensembl
Outerchr2:227330732..227332464hg38UCSC Ensembl
chr2:228195498..228197130hg19UCSC Ensembl
Innerchr2:228195548..228197080hg19UCSC Ensembl
Outerchr2:228195448..228197180hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg381633
hg191633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10870261, essv10870262, essv10870260, essv10870258, essv10870259, essv10870257
SamplesNA19394, HG01242, NA19917, HG02819, HG03833, HG03025
Known GenesMFF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594533
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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