A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12312580



Internal ID1114467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:33995512..34001488hg38UCSC Ensembl
chr6:33963289..33969265hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg385977
hg195977
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608649
Supporting Variants
SamplesHG00740
Known GenesMIR1275
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12312580
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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