A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588604



Internal ID6628895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203821375..203824379hg38UCSC Ensembl
Innerchr1:203821375..203824379hg38UCSC Ensembl
Outerchr1:203821256..203824583hg38UCSC Ensembl
chr1:203790503..203793507hg19UCSC Ensembl
Innerchr1:203790503..203793507hg19UCSC Ensembl
Outerchr1:203790384..203793711hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383005
hg193005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10266215
SamplesNA18550
Known GenesZC3H11A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588604
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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