A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12668702



Internal ID2670518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2691075..2691658hg38UCSC Ensembl
Innerchr7:2691076..2691658hg38UCSC Ensembl
Outerchr7:2691075..2691659hg38UCSC Ensembl
chr7:2730709..2731292hg19UCSC Ensembl
Innerchr7:2730710..2731292hg19UCSC Ensembl
Outerchr7:2730709..2731293hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38584
hg19584
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611849
Supporting Variants
SamplesHG03685
Known GenesAMZ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12668702
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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