A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11183941



Internal ID1185757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151230797..151234936hg38UCSC Ensembl
Innerchr3:151230812..151234921hg38UCSC Ensembl
Outerchr3:151230782..151234951hg38UCSC Ensembl
chr3:150948585..150952724hg19UCSC Ensembl
Innerchr3:150948600..150952709hg19UCSC Ensembl
Outerchr3:150948570..150952739hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg384140
hg194140
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598170
Supporting Variants
SamplesNA20508
Known GenesMED12L, P2RY14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11183941
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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