A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608849



Internal ID6995773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45029292..45072894hg38UCSC Ensembl
Innerchr6:45029299..45072887hg38UCSC Ensembl
Outerchr6:45029285..45072901hg38UCSC Ensembl
chr6:44997029..45040631hg19UCSC Ensembl
Innerchr6:44997036..45040624hg19UCSC Ensembl
Outerchr6:44997022..45040638hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3843603
hg1943603
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1180e214
Supporting Variantsessv12333822
SamplesHG00136
Known GenesSUPT3H
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608849
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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