A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12345027



Internal ID3540514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49802958..49838775hg38UCSC Ensembl
chr6:49770671..49806488hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3835818
hg1935818
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608951
Supporting Variants
SamplesHG03127
Known GenesCRISP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12345027
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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