A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12668849



Internal ID520600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2707292..2708096hg38UCSC Ensembl
Innerchr7:2707294..2708094hg38UCSC Ensembl
Outerchr7:2707290..2708098hg38UCSC Ensembl
chr7:2746926..2747730hg19UCSC Ensembl
Innerchr7:2746928..2747728hg19UCSC Ensembl
Outerchr7:2746924..2747732hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38805
hg19805
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611850
Supporting Variants
SamplesHG00187
Known GenesAMZ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12668849
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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