A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12668874



Internal ID4101033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2981797..2984181hg38UCSC Ensembl
Innerchr7:2981797..2984181hg38UCSC Ensembl
Outerchr7:2981665..2984371hg38UCSC Ensembl
chr7:3021431..3023815hg19UCSC Ensembl
Innerchr7:3021431..3023815hg19UCSC Ensembl
Outerchr7:3021299..3024005hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg382385
hg192385
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611859
Supporting Variants
SamplesHG03722
Known GenesCARD11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12668874
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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