A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608949



Internal ID6649182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49690413..49880115hg38UCSC Ensembl
Innerchr6:49690424..49880105hg38UCSC Ensembl
Outerchr6:49690403..49880126hg38UCSC Ensembl
chr6:49658126..49847828hg19UCSC Ensembl
Innerchr6:49658137..49847818hg19UCSC Ensembl
Outerchr6:49658116..49847839hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38189703
hg19189703
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12345025
SamplesHG03127
Known GenesCRISP1, CRISP2, CRISP3, PGK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608949
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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