A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12668526



Internal ID2670342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2688293..2694228hg38UCSC Ensembl
chr7:2727927..2733862hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg385936
hg195936
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611847
Supporting Variants
SamplesNA18591
Known GenesAMZ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12668526
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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