A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590943



Internal ID6978271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57702243..57703387hg38UCSC Ensembl
Innerchr2:57702243..57703387hg38UCSC Ensembl
Outerchr2:57702038..57703486hg38UCSC Ensembl
chr2:57929378..57930522hg19UCSC Ensembl
Innerchr2:57929378..57930522hg19UCSC Ensembl
Outerchr2:57929173..57930621hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381145
hg191145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10517450, essv10517453, essv10517454, essv10517449, essv10517452, essv10517448, essv10517451, essv10517447
SamplesHG03968, NA20889, HG04075, HG03771, HG03730, NA20866, HG03672, HG03789
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590943
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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