A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12971767



Internal ID1007783
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615015
Supporting Variants
SamplesHG00629
Known GenesZC3HC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12971767
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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