A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6427449



Internal ID9575008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6579042..6579177hg38UCSC Ensembl
chr12:6688208..6688343hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2675369
Supporting Variants
SamplesNA19138
Known GenesCHD4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6427449
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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