A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10208520



Internal ID1601127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182955094..182957573hg38UCSC Ensembl
Innerchr1:182955094..182957573hg38UCSC Ensembl
Outerchr1:182954999..182957713hg38UCSC Ensembl
chr1:182924229..182926708hg19UCSC Ensembl
Innerchr1:182924229..182926708hg19UCSC Ensembl
Outerchr1:182924134..182926848hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg382480
hg192480
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588107
Supporting Variants
SamplesHG01488
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10208520
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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