A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608754



Internal ID6995678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:39100837..39105178hg38UCSC Ensembl
Innerchr6:39100887..39105128hg38UCSC Ensembl
Outerchr6:39100709..39105306hg38UCSC Ensembl
chr6:39068613..39072954hg19UCSC Ensembl
Innerchr6:39068663..39072904hg19UCSC Ensembl
Outerchr6:39068485..39073082hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg384342
hg194342
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12323099, essv12323106, essv12323119, essv12323100, essv12323097, essv12323124, essv12323113, essv12323101, essv12323123, essv12323108, essv12323109, essv12323111, essv12323105, essv12323107, essv12323104, essv12323121, essv12323122, essv12323114, essv12323126, essv12323115, essv12323095, essv12323096, essv12323128, essv12323118, essv12323112, essv12323117, essv12323120, essv12323110, essv12323127, essv12323094, essv12323125, essv12323102, essv12323098, essv12323116, essv12323103
SamplesHG02614, HG01985, NA19028, HG02610, HG03449, NA18486, NA20294, NA19314, NA20359, HG03572, HG03133, HG02645, HG02561, HG01080, HG02573, HG01628, NA19235, NA19385, HG01176, NA19026, NA19189, NA18520, HG00637, HG02882, NA19347, HG03476, HG03388, NA19206, NA19147, HG02759, NA19712, HG01362, NA19435, HG01375, HG03259
Known GenesSAYSD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608754
Frequency
Sample Size2504
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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