A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12845457



Internal ID2847273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74451473..74484151hg38UCSC Ensembl
chr7:73865803..73898481hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3832679
hg1932679
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613708
Supporting Variants
SamplesHG00342
Known GenesGTF2IRD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12845457
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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