A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615015



Internal ID7001904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130042537..130045786hg38UCSC Ensembl
chr7:129682377..129685626hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg383250
hg193250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12971775, essv12971771, essv12971774, essv12971769, essv12971768, essv12971767, essv12971766, essv12971772, essv12971773, essv12971764, essv12971770, essv12971765
SamplesNA19057, NA18993, NA18547, HG03234, HG01813, HG00629, NA18637, NA18579, HG04155, HG00407, HG00476, HG00437
Known GenesZC3HC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615015
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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