A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10395332



Internal ID6623753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2623473..2625010hg38UCSC Ensembl
Innerchr2:2623474..2625009hg38UCSC Ensembl
Outerchr2:2623472..2625011hg38UCSC Ensembl
chr2:2627245..2628782hg19UCSC Ensembl
Innerchr2:2627246..2628781hg19UCSC Ensembl
Outerchr2:2627244..2628783hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381538
hg191538
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589649
Supporting Variants
SamplesNA20787
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10395332
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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