A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660839



Internal ID9580258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39654134..39654512hg38UCSC Ensembl
chr8:39511653..39512031hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38379
hg19379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6402985, essv5618590, essv5902574, essv6228869, essv6188658, essv5891603, essv6483592, essv6377100, essv5919681, essv6044898, essv6558176, essv6531994, essv6233792, essv6302170, essv5807163, essv5537010, essv5983859, essv6334080, essv6466934, essv5866383, essv5487348, essv5970103, essv5896758, essv6317613, essv5475331, essv6565684, essv6398554, essv6048136, essv5398599, essv6249558, essv6492600, essv5829673, essv5543445, essv6219780, essv5556418, essv5580168, essv5892036, essv6527434, essv6466634, essv5535155, essv5584962, essv5980138, essv5597226, essv6194658, essv5619276, essv6163335, essv5846651, essv6173229, essv5466444, essv6520953, essv5622409, essv6531290, essv6260021, essv5424580, essv6245281, essv6528730, essv5655501, essv6032010, essv5619635, essv5568784, essv6591272, essv6427956, essv6348258
SamplesNA19137, NA19312, NA12043, NA19152, NA18975, NA19209, NA18501, NA19093, NA19469, NA19435, NA19319, NA19430, NA18516, NA18972, HG01488, NA19920, NA18542, NA18489, NA19461, NA18507, NA12776, NA19467, NA18943, NA19147, NA18868, NA12763, NA18912, NA18508, NA18967, HG01375, NA12155, NA18960, HG01048, NA19396, NA18856, NA19398, NA18916, NA19190, NA19172, NA19703, NA18498, NA18968, NA19119, NA18487, NA19909, NA19159, NA18579, NA19711, NA18974, NA18940, NA10851, NA19138, NA18907, NA06984, NA12156, NA19116, NA18971, NA11992, NA19160, NA18499, NA11829, NA19171, NA19758
Known GenesADAM18
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660839
Frequency
Sample Size1151
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer