A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661271



Internal ID9927376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76245088..76257975hg38UCSC Ensembl
chr4:77166241..77179128hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3812888
hg1912888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6479007, essv5443641, essv5778409, essv6536357, essv5926417, essv6530561, essv6547235, essv6378804, essv5472664, essv5902343, essv6107772
SamplesNA19443, NA19313, NA19385, NA19456, NA19469, NA19390, NA19334, NA19470, NA19360, NA19430, NA19429
Known GenesFAM47E, FAM47E-STBD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661271
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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