A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12668527



Internal ID2670343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2688293..2694228hg38UCSC Ensembl
chr7:2727927..2733862hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg385936
hg195936
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611848
Supporting Variants
SamplesHG00407
Known GenesAMZ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12668527
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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