A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10285208



Internal ID2077355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210650782..210654359hg38UCSC Ensembl
Innerchr1:210650782..210654359hg38UCSC Ensembl
Outerchr1:210650282..210654859hg38UCSC Ensembl
chr1:210824126..210827703hg19UCSC Ensembl
Innerchr1:210824126..210827703hg19UCSC Ensembl
Outerchr1:210823626..210828203hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg383578
hg193578
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588722
Supporting Variants
SamplesHG01889
Known GenesHHAT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10285208
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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