A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11135156



Internal ID1907232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127809095..127810388hg38UCSC Ensembl
Innerchr3:127809246..127810240hg38UCSC Ensembl
Outerchr3:127808891..127810592hg38UCSC Ensembl
chr3:127527938..127529231hg19UCSC Ensembl
Innerchr3:127528089..127529083hg19UCSC Ensembl
Outerchr3:127527734..127529435hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381294
hg191294
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597700
Supporting Variants
SamplesHG01789
Known GenesMGLL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11135156
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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