A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9878954



Internal ID2874435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19285930..19287667hg38UCSC Ensembl
Innerchr1:19285934..19287664hg38UCSC Ensembl
Outerchr1:19285927..19287671hg38UCSC Ensembl
chr1:19612424..19614161hg19UCSC Ensembl
Innerchr1:19612428..19614158hg19UCSC Ensembl
Outerchr1:19612421..19614165hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381738
hg191738
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585393
Supporting Variants
SamplesHG02549
Known GenesAKR7A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9878954
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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