A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12726005



Internal ID463535
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612789
Supporting Variants
SamplesHG00148
Known GenesBMPER
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12726005
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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