A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12958301



Internal ID4103557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:126991347..127044631hg38UCSC Ensembl
chr7:126631401..126684685hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg3853285
hg1953285
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614946
Supporting Variants
SamplesHG03727
Known GenesGRM8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12958301
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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