A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597434



Internal ID6972280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113311356..113313752hg38UCSC Ensembl
Innerchr3:113311356..113313752hg38UCSC Ensembl
Outerchr3:113311212..113313990hg38UCSC Ensembl
chr3:113030203..113032599hg19UCSC Ensembl
Innerchr3:113030203..113032599hg19UCSC Ensembl
Outerchr3:113030059..113032837hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg382397
hg192397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11105650, essv11105643, essv11105647, essv11105645, essv11105649, essv11105646, essv11105644, essv11105648
SamplesHG03135, NA18489, NA19138, HG03268, NA18908, HG02953, HG02256, NA19223
Known GenesWDR52
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597434
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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