A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9926607



Internal ID710127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47566970..47571878hg38UCSC Ensembl
Innerchr1:47566975..47571874hg38UCSC Ensembl
Outerchr1:47566966..47571883hg38UCSC Ensembl
chr1:48032642..48037550hg19UCSC Ensembl
Innerchr1:48032647..48037546hg19UCSC Ensembl
Outerchr1:48032638..48037555hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg384909
hg194909
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585957
Supporting Variants
SamplesHG00334
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9926607
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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