A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665890



Internal ID9585309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130042123..130045817hg38UCSC Ensembl
chr7:129681963..129685657hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg383695
hg193695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5770013, essv6268049, essv5606446, essv5962043, essv5718704, essv6517168, essv5436775, essv6512265
SamplesNA19057, HG00629, NA18637, NA18579, HG00635, HG00476, HG00578, HG00437
Known GenesZC3HC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665890
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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