A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6260004



Internal ID9515287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227654768..227655356hg38UCSC Ensembl
chr1:227842469..227843057hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38589
hg19589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668154
Supporting Variants
SamplesNA19002
Known GenesZNF678
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6260004
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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