A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12327723



Internal ID2329539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41283647..41290154hg38UCSC Ensembl
Innerchr6:41283673..41290129hg38UCSC Ensembl
Outerchr6:41283622..41290180hg38UCSC Ensembl
chr6:41251385..41257892hg19UCSC Ensembl
Innerchr6:41251411..41257867hg19UCSC Ensembl
Outerchr6:41251360..41257918hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg386508
hg196508
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608789
Supporting Variants
SamplesHG03999
Known GenesTREM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12327723
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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