A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641114



Internal ID6681199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68567011..68569101hg38UCSC Ensembl
Innerchr17:68567019..68569094hg38UCSC Ensembl
Outerchr17:68567004..68569109hg38UCSC Ensembl
chr17:66563152..66565242hg19UCSC Ensembl
Innerchr17:66563160..66565235hg19UCSC Ensembl
Outerchr17:66563145..66565250hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg382091
hg192091
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15730561, essv15730562, essv15730550, essv15730553, essv15730526, essv15730552, essv15730566, essv15730547, essv15730558, essv15730557, essv15730527, essv15730565, essv15730551, essv15730538, essv15730534, essv15730555, essv15730529, essv15730537, essv15730531, essv15730539, essv15730536, essv15730530, essv15730541, essv15730544, essv15730556, essv15730564, essv15730533, essv15730540, essv15730525, essv15730523, essv15730545, essv15730548, essv15730535, essv15730554, essv15730542, essv15730532, essv15730524, essv15730569, essv15730543, essv15730563, essv15730549, essv15730546, essv15730559, essv15730568, essv15730567, essv15730528, essv15730560
SamplesHG03136, NA19207, HG02477, HG03121, NA19445, NA19214, NA19209, HG02799, NA19149, HG02006, HG03133, HG03419, HG03111, HG03099, HG01958, NA19355, HG02053, NA19914, HG02981, HG03127, NA19471, NA19096, HG03130, NA19247, NA19153, NA19206, NA19102, HG02558, HG03096, NA19131, HG03118, NA19141, HG03352, HG03303, HG03045, HG03172, NA18879, HG03259, NA19160, HG02476, NA19198, HG03117, NA19473, NA19185, NA19200, NA18519, NA19922
Known GenesFAM20A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641114
Frequency
Sample Size2504
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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