A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12557515



Internal ID1978549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133708765..133714418hg38UCSC Ensembl
chr6:134029903..134035556hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg385654
hg195654
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610863
Supporting Variants
SamplesHG01842
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12557515
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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