A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612789



Internal ID6999689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:34050321..34075200hg38UCSC Ensembl
Innerchr7:34050346..34075175hg38UCSC Ensembl
Outerchr7:34050296..34075225hg38UCSC Ensembl
chr7:34089933..34114812hg19UCSC Ensembl
Innerchr7:34089958..34114787hg19UCSC Ensembl
Outerchr7:34089908..34114837hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3824880
hg1924880
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1279e214
Supporting Variantsessv12726006, essv12726005
SamplesNA12273, HG00148
Known GenesBMPER
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612789
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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