A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591795



Internal ID6979123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102904758..102918612hg38UCSC Ensembl
Innerchr2:102904758..102918612hg38UCSC Ensembl
Outerchr2:102904258..102919112hg38UCSC Ensembl
chr2:103521216..103535070hg19UCSC Ensembl
Innerchr2:103521216..103535070hg19UCSC Ensembl
Outerchr2:103520716..103535570hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3813855
hg1913855
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10598272
SamplesHG02885
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591795
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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