A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11085808



Internal ID1087624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100605159..100610785hg38UCSC Ensembl
Innerchr3:100605159..100610785hg38UCSC Ensembl
Outerchr3:100605065..100610843hg38UCSC Ensembl
chr3:100324003..100329629hg19UCSC Ensembl
Innerchr3:100324003..100329629hg19UCSC Ensembl
Outerchr3:100323909..100329687hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg385627
hg195627
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597176
Supporting Variants
SamplesNA18552
Known GenesGPR128
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11085808
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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