A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12986013



Internal ID6213953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142050223..142076358hg38UCSC Ensembl
Innerchr7:142050723..142075858hg38UCSC Ensembl
Outerchr7:142049223..142077358hg38UCSC Ensembl
chr7:141750023..141776158hg19UCSC Ensembl
Innerchr7:141750523..141775658hg19UCSC Ensembl
Outerchr7:141749023..141777158hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3826136
hg1926136
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615263
Supporting Variants
SamplesNA19740
Known GenesMGAM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12986013
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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