A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594490



Internal ID6634766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225425979..225429201hg38UCSC Ensembl
Innerchr2:225425980..225429200hg38UCSC Ensembl
Outerchr2:225425978..225429202hg38UCSC Ensembl
chr2:226290695..226293917hg19UCSC Ensembl
Innerchr2:226290696..226293916hg19UCSC Ensembl
Outerchr2:226290694..226293918hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg383223
hg193223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10867504, essv10867499, essv10867501, essv10867503, essv10867500, essv10867498, essv10867502
SamplesHG02666, NA18877, HG02722, HG03571, HG03380, HG03069, HG03082
Known GenesNYAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594490
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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