A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12992273



Internal ID2567112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143127752..143196816hg38UCSC Ensembl
Innerchr7:143127753..143196816hg38UCSC Ensembl
Outerchr7:143127752..143196817hg38UCSC Ensembl
chr7:142824845..142893909hg19UCSC Ensembl
Innerchr7:142824846..142893909hg19UCSC Ensembl
Outerchr7:142824845..142893910hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3869065
hg1969065
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615302
Supporting Variants
SamplesHG02278
Known GenesPIP, TAS2R39
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12992273
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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